Search results for "Lep"
showing 10 items of 3622 documents
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
2020
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…
Search for anomalous production of events with two photons and additional energetic objects at CDF
2010
27 páginas, 17 figuras, 5 tablas.-- CDF Collaboration: et al.
Measurement of the lifetime of tau-lepton
1996
The tau lepton lifetime is measured with the L3 detector at LEP using the complete data taken at centre-of-mass energies around the Z pole resulting in tau_tau = 293.2 +/- 2.0 (stat) +/- 1.5 (syst) fs. The comparison of this result with the muon lifetime supports lepton universality of the weak charged current at the level of six per mille. Assuming lepton universality, the value of the strong coupling constant, alpha_s is found to be alpha_s(m_tau^2) = 0.319 +/- 0.015(exp.) +/- 0.014 (theory). The tau lepton lifetime is measured with the L3 detector at LEP using the complete data taken at centre-of-mass energies around the Z pole resulting in τ τ =293.2 ± 2.0 (stat) ± 1.5 (syst) fs . The c…
Search for neutral heavy leptons produced in Z decays
1997
Weak isosinglet Neutral Heavy Leptons ($\nu_m$) have been searched for using data collected by the DELPHI detector corresponding to $3.3\times 10^{6}$ hadronic~Z$^{0}$ decays at LEP1. Four separate searches have been performed, for short-lived $\nu_m$ production giving monojet or acollinear jet topologies, and for long-lived $\nu_m$ giving detectable secondary vertices or calorimeter clusters. No indication of the existence of these particles has been found, leading to an upper limit for the branching ratio $BR($Z$^0\rightarrow \nu_m \overline{\nu})$ of about $1.3\times10^{-6}$ at 95\% confidence level for $\nu_m$ masses between 3.5 and 50 GeV/$c^2$. Outside this range the limit weakens rap…
Abelian realization of phenomenological two-zero neutrino textures
2014
In an attempt at explaining the observed neutrino mass-squared differences and leptonic mixing, lepton mass matrices with zero textures have been widely studied. In the weak basis where the charged lepton mass matrix is diagonal, various neutrino mass matrices with two zeros have been shown to be consistent with the current experimental data. Using the canonical and Smith normal form methods, we construct the minimal Abelian symmetry realizations of these phenomenological two-zero neutrino textures. The implementation of these symmetries in the context of the seesaw mechanism for Majorana neutrino masses is also discussed.
Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
2020
Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018&ndash
Letter to the Editor Regarding the Article Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Cand…
2020
Neurosecretion in the Frontal Ganglion of the Stick Insect, Carausius morosus
1978
The presence of neurosecretory cells in the frontal ganglion (FG) has been demonstrated only in the Lepidoptera Bombyx (BOUNHIOL et al., 1953), Manduca (BORG et al., 1973; BELL et al., 1974), and Diatraea (YIN and CHIPPENDALE, 1975). In Manduca and Diatraea the neurosecretory material of the FG is apparently involved in the regulation of diapause.
Effect of genetics polymorphism of carbamazepine – metabolizing enzymes in epileptic patients
2013
In vitro effect of leptin on human cardiac contractility
2019
AbstractLeptin, a hormone produced by adipose tissue, has been linked to many regulatory pathways. Its role in the complex relationship between obesity and CVD is not yet clear. The aim of the present study was to evaluate whether leptin interferes directly with cardiac function regulation, altering its contractile force character, and hence contributing to different pathological processes. Muscle samples were obtained from human atrial myocardium. Each trial included two samples from the same patient. They were simultaneously electrically stimulated under sustained perfusion to perform isometric contractions. One sample was treated with a high concentration of human recombinant leptin (1 µ…